Brachydactyly type E in an Italian family with 6p25 trisomy.
Eur J Med Genet
; 60(3): 195-199, 2017 Mar.
Article
em En
| MEDLINE
| ID: mdl-28111183
ABSTRACT
Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Fatores de Transcrição Forkhead
/
Braquidactilia
Limite:
Adult
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Female
/
Humans
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Infant
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2017
Tipo de documento:
Article